Frequency of glycogen storage disease
type II in the Netherlands: Implications for diagnosis and genetic counselling.
et al, High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease
type II in the Japanese population.
The researchers conservatively estimate that about one in 2,500 people in Nunavik may have glycogen storage disease
Genetic basis of glycogen storage disease
type 1a: Prevalent mutations at the glucose-6-phosphatase locus.
Successful pregnancy in a patient with type III glycogen storage disease
managed with cornstarch supplements.
The increase in information about glycogen storage disease
1a and GSD 1b and in the rate of determination of mutation gave the idea of diagnosing GSD 1a and GSD 1b with mutation analysis together with clinical and biochemical abnormalities instead of enyzmatic measurement by liver biopsy which is an invasive method.
Effective enzyme replacement therapy is available for Pompe disease [also known as glycogen storage disease
type II, caused by acid [alpha]-glucosidase (GAA) deficiency], Fabry disease [[alpha]-galactosidase (GLA) deficiency], Hurler syndrome (mucopolysaccharidosis type I, [alpha]-iduronidase deficiency), Hunter disease (mucopolysaccharidosis type II, iduronate-2-sulfatase deficiency), Maroteaux-Lamy disease (mucopolysaccharidosis type VI, [alpha]-acetylgalactosamine 4-sulfatase deficiency), and Gaucher disease (glucocerebrosidase deficiency) (5, 6).
Autoimmune hepatitis formed 19% of the diagnosis above two years of age, second only to glycogen storage disease
But the team wants to raise awareness of the condition, which often goes undiagnosed, and raise money for the research charity, the Association for Glycogen Storage Disease
Glycogen storage disease
(GSD) or glycogenosis include hereditary diseases caused by abnormalities of the enzymes that regulate the synthesis and degradation of glycogen.
Key Words: McArdle disease, glycogen storage disease
V, GSDV, sickle cell trait, bulimia
Individuals with glycogen storage disease
or with poorly controlled diabetes have excessive storage of glycogen in their livers (glycogenosis) and increased risk of liver cancer (Adami et al.
Type IV glycogen storage disease
(type IV GSD), also known as Andersen disease or amylopectinosis, is a rare autosomal-recessive disorder caused by the deficiency of glycogen branching enzyme.
Mr Toth's five-year-old son Wilfred, who suffered from glycogen storage disease
, went into a hypoglycaemic seizure on October 9, 1993, at his home in Wallingford, Oxfordshire.
Less common causes of cirrhosis include direct liver injury from inherited disease such as cystic fibrosis, alpha-1-antitrypsin deficiency, hemochromatosis, Wilson's disease, galactosemia, and glycogen storage disease